#Heart disease genetics

[swagging-back-to]

it is not controversial to say that if you cannot finacially, emotionally provide for a child and/or your genetics would lead to them suffering then you should not have said child.

[battlevann]

guess who has to go 2 cardiology...

[dodgebolts]

actually tho if anyone has good nonfiction book recs I really do want to get back into reading

[uraandri]

my mole is looking kinda weird i'm gonna see if it changes in the next few days and then see a doctor 👍 it could be that my eczema is flairing up right beneath it because the band of my pants goes right over it and it always activates when i'm stressed 👍

[tiredtriedfailures]

motherfuckin gallstones at 21

[simonh]

Genes That Control Cholesterol by National Library of Medicine Via Flickr: Contributor(s): Brown, Michael S., 1941-, National Institutes of Health, (U.S.). Medical Arts and Photography Branch. Publication: [Bethesda, Md. : Medical Arts and Photography Branch, National Institutes of Health, 1990] Language(s): English Format: Still image Subject(s): Cholesterol -- metabolism, Hyperlipoproteinemia Type II -- genetics, Heart Diseases -- etiology Genre(s): Posters Abstract: The major portion of the poster is a colored sketch in light purple, bright pink, green, and light aqua with orange circles and a white line zig-zagging through it, all against a grayish blue background. At the bottom of the poster, the date, time, and location of the lecture are given along with the listing of Dr. Brown's position as Director, Center for Genetic Diseases, University of Texas, Southwestern Medical School in Dallas. Extent: 1 photomechanical print (poster) : 81 x 66 cm. Technique: color NLM Unique ID: 101454113 NLM Image ID: C00742 Permanent Link: resource.nlm.nih.gov/101454113

[platinumforheart]

Genetic markers play a pivotal role in determining individuals' heightened chance of coronary heart attacks. Through genetic checking out, healthcare professionals can verify a character's genetic predisposition to cardiovascular illnesses, along with coronary heart attacks.

[vaulthuntersmybeloved]

When I said I wanted to donate my body to science I meant AFTER I was dead 😭

[pksp-yellow]

I just fully realized the Cardiologist I'm seeing on Thursday is a dude I am terrified

[jcmarchi]

Envisioning a time when people age without fear of dementia

New Post has been published on https://thedigitalinsider.com/envisioning-a-time-when-people-age-without-fear-of-dementia/

Envisioning a time when people age without fear of dementia

The mathematician and computer scientist Richard Hamming once gave a talk about doing great research. “He who works with the door open gets all kinds of interruptions, but he also occasionally gets clues as to what the world is and what might be important,” Hamming said, emphasizing the importance of open-mindedness and scientific development.

William Li came across this quote as a high school student seeking to dedicate himself to research but unsure how to begin. “I think that science is kind of an opaque area to break into. It’s hard to know what you’re supposed to be doing from time to time,” Li explains.

A double-major in physics and computer science, Li has taken this advice to heart. Keeping his “office door” open has led him to a variety of research projects, from neuroimaging to genomics, that shaped his long-term goal: to become a physician-scientist who moves the needle on Alzheimer’s disease.

Li’s interest in working with patients in a clinical setting was spurred by his grandfather, who was a doctor. In high school, he began volunteering in retirement homes and at the Byrd Alzheimer’s Center and Research Institute at the University of South Florida. Through this work, Li witnessed the devastating effects Alzheimer’s disease has on both those diagnosed and their loved ones.

But that isn’t the only thing about Alzheimer’s that has grabbed his interest. With no cure available, and relatively little known about its cause, the disease is also a compelling scientific problem. “Beyond its human impact, Alzheimer’s represents a frontier of our understanding of human disease,” Li says.

Starting in the fall, Li will begin an MD/PhD program “for the better part of the coming decade.” Following that, he hopes to secure a residency in radiology or neurology, and then to teach and do research while simultaneously practicing medicine. His ultimate goal is a big one — to help develop a cure for Alzheimer’s.

Pursing knowledge

Research has been the highlight of Li’s career at MIT. He says, “To me personally, research means being able to contribute to a body of knowledge built upon by generations of minds in the past. I see modern science and technology as a pinnacle of human achievement, and it’s a dream come true to be able to add to this work.”

In a normal week during the academic semester, Li can spend up to 15 hours in the lab. His research projects have addressed very different topics, but both have guided him toward his current goals.

In the Soljačić and Johnson groups in the Research Laboratory of Electronics, Li he has worked in nanophotonics, a field concerned with controlling light by designing structures the size of a wavelength, for optical and X-ray images, among other applications. 

Li has worked on making X-ray imaging safer and more effective for medical screenings. He also focuses on using computational methods to design nanophotonic device elements for higher-resolution imaging. “Imaging technologies in the future will have pretty enormous applications both for understanding disease and for being able to catch diseases early through diagnosis,” he says.

In his sophomore year, Li began working at the lab of Professor Manolis Kellis at the Broad Institute of MIT and Harvard, using computational tools to study genetic variation among Alzheimer’s patients and how this relates to the disease itself. In this way, the disease can be broken down into subtypes, explains Li, which will make it easier to understand and treat. Last summer, Li won a SuperUROP Outstanding Research Award for this project.

Forging connections

When Li first joined the Kellis lab, the field of genomics seemed vast and overwhelming. To combat this, he started an academic journal club. In the club, Li and his peers would read research papers together and discuss them. In the fashion of a traditional journal club, one person would present at each meeting. Club participants encouraged each other to focus on any research they found exciting, ranging over the past century. As the club has continued, members have started to present their own research to the group as well. “It’s fun seeing what my friends are interested in,” Li says.

Li also served as the collegiate relations co-chair of MIT’s Pre-Medical Society. Here he was responsible for organizing an annual meeting between all pre-med students of the greater Boston area. This mixer was held for pre-med students to other local students and learn from pre-medical advisors and alumni of various Boston schools.

Among the several communities Li is a part of at MIT, his dormitory holds a special place in his heart. Next House, MIT’s largest dorm building, is the place Li has called home since his junior year. Since moving in, he has immersed himself in the living community by assuming roles in several activities hosted by the dorm, such as Thanksgiving dinner.

“I’m very happy to be part of the Next House community. It’s a pretty fantastic place, and I would say that my quality of social life has increased a lot since moving here,” he states.

Along with large events, Li also appreciates the weekly traditions he has created with his Next House friends. Each Sunday, for example, Li joins members of his dorm wing for a 15-minute workout. He says he enjoys exercising in the group setting and frequently attends the gym with his friends, too.

After some downtime on the weekends, Li heads back to the lab and his quest to better understand the brain and how it can be ravaged by dementia. As he continues on his path toward becoming a researcher and physician, he envisions a world where people can age without fear of illness.

[une-sanz-pluis]

This article goes on to say that imply that because Edward IV died aged 43, then death by natural causes is entirely possible and hardly surprising for Henry VI based on his "family background", citing his maternal grandfather's porphyria (which is an entirely speculative diagnosis) and the fact that both parents died before reaching age 35.

I don't think "dysentery caught on campaign + heatstroke" or "childbirth complications" are inheritable conditions. Nor do they really tell us how healthy Henry's parents really were were since these can kill even the most healthy and fit people.

god spare me from articles about Henry VI's death written by Ricardians going, "how do we even know Henry VI was murdered? huh? huh? Tudor propaganda!!"

[why-animals-do-the-thing]

Do you have a snoot noodle or other variation of sighthound? If yes, there’s new heart health research for the breed happening!

A researcher at Texas A&M whose work I’m familiar with is starting a new study looking at genetic factors contributing to heart disease in Borzoi and related breeds. They just put out a call for dog owners who are willing to submit saliva samples & (noodle) medical records. Studies like this need a big sample size! They’re accepting new sign-ups starting now until March 1, 2025, for dogs both in the US and internationally.

Let’s help make some science!

From the study page:

“Background and purpose

Recent research in Borzoi dogs has revealed that dogs of this breed experience sudden, unexplained death. About 85% of sudden, unexplained deaths in humans are linked to an underlying heart disease. Our existing research in Borzoi dogs has shown that they are predisposed to developing arrhythmias (abnormal heart rhythms) and dilated cardiomyopathy (a heart muscle disease causing dilated heart chambers and weak pumping function).

Due to our documentation of the frequency of these conditions in Borzoi dogs, we seek to identify responsible genetic variations similar to what is seen in humans with electrical cardiac diseases that trigger arrhythmias and dilated cardiomyopathy.

The objective of our study is to identify genetic mutations associated with heart disease in Borzoi dogs and document their existence in other sighthound breeds.

What happens in this study

We are collecting saliva samples from both healthy Borzoi and Borzoi dogs affected with arrhythmias and/or dilated cardiomyopathy. We will also collect saliva samples from any other sighthound breeds.

We will extract DNA from these samples and perform genomic sequencing on a select number while retaining the remainder for further screening.By analyzing the sequencing data, we can compare the genes of healthy and affected Borzoi dogs and identify variants linked to their heart conditions. We will also compare the findings in Borzoi dogs to results from other sighthound breeds.

Pet owner responsibilities

A swab kit will be sent to you for at home use along with a link to an instructional video on how to properly obtain a swab of the mouth. The kit will contain equipment to collect the saliva swab, a history form for your pet, a client consent form and a shipping label to return samples to us.

Participation requirements

To participate, you must have a Borzoi dog or a sighthound breed that is either healthy or affected by arrhythmias and/or dilated cardiomyopathy. Pets may be any age or sex. Electronic or paper veterinary medical records will need to be provided.

Benefits and risks of participating

There is little to no risk for taking a brief swab of the mouth for saliva collection if procedures outlined in the video are followed. No individual genetic test results will be provided to study participants.

Compensation

There is no cost to the owner for participating in this study. No compensation will be provided.”

[sawbonesbyankur]

increased risk of heart attacks in adults (22-36)

increased risk of heart attacks in adults (22-36)

Heart attacks can occur at any age, but they are more commonly associated with older adults. However, it is not uncommon for young people to experience heart attacks, and there are a number of factors that can increase the risk of heart attack in young people.It is concerning to hear that you are interested in writing a blog post about the increase in heart attacks among young people. Heart…

[sunieepo]

This is Eman a Biotechnologist from Gaza. Asking for help is not easy. It's not easy at all. You have no idea how mentally and emotionally tiring this is. But when thinking that the price is my family's life, getting out of here safely and achieve my doctoral degree dream, it just pushes me more and more to do this until we reach our goal. I'm here as I try to reach out to more people asking for their help to support our family's campaign so we can survive while all you have to do is literally donating even by just the price of your morning coffee or maybe a simple breakfast, So I think I'm not asking for so much. We're really tired of living under these catastrophic conditions for a whole 10 months. Your generosity will not only change our lives but also remind us that even in our darkest hour, we are not alone. https://gofund.me/d597b8e2

Hi there, Eman. I'm a biotechnologist just like you. I looked up your work and saw your research on identifying genetic risk factors for ischemic heart disease and celiac disease. That's really admirable work, and I hope you can one day achieve your dream of studying for your PhD in Malaysia. For now, I've donated what I can to try and keep you and your family safe.

Clickable URL to the page: https://gofund.me/d597b8e2

Note for my followers that I have checked this blog and can confirm this fundraiser is vetted.

[nagichi-boop]

Gerald’s Journal - Disability representation

I read scans of Gerald’s Journal and I have to talk about it. Not the lore or anything like that, but the disability rep. I didn’t expect to cry reading this.

Please don’t look at this post if you don’t want to be spoiled about what’s in this journal. If you do want to read it, you can find scans here. Credit to this Twitter/X thread for the images I’ll use.

I don’t have much to say about this image, but it is nice to see Maria using a mobility aid. It’s not often we get representation for an ambulatory wheelchair user.

I do wonder about Maria’s relationship with her parents. They weren’t happy with Gerald’s wish to bring her to the ARK so that he could research a cure for her, but they let her go anyways? Maybe Gerald got some sort of order to get her to go or Maria decided she wanted to go with him, but it seems a little odd to me. I’ll expand on this a little later.

Quote from right page: “[Maria] is growing into a lovely young woman. It breaks my heart that someone as bright and energetic as her is diminished by disease. There are no visible effects, and I’ve caught my fellow researchers muttering to each other, doubting her illness. It is infuriating. I find all my reason and restraint vanished when she’s slighted.”

Oh my days, I’ve never felt so seen by a piece of media and it just so happens to be my special interest video game. I am tearing up again thinking about this. Maybe that’s silly but to have a character express his frustrations about people doubting the invisible disability of his grandchild is so touching. I wish people in my life were more like Gerald. People with invisible illnesses get doubted so much because we “look fine”, but it’s so invalidating to have your struggles questioned just because the symptoms aren’t as visibly obvious.

Quote from left page: “[Maria] doesn’t know the full scope of what [Shadow] has been designed for, but she understands he will be under tremendous strain. She’s helped me conceptualize a number of accessories that will help focus his power and aid in his mobility.”

So we now have confirmation that Shadow’s air shoes and inhibitor rings are akin to mobility aids. I headcanoned this but I didn’t know they’d flat out confirm it like that. My favourite character is canonically disabled physically (and I’d argue mentally given his PTSD). I don’t have much to say about this besides being happy that my favourite character is now even more relatable.

It also makes a lot of sense for Maria to help create them because she has experience with her own disability and can offer a perspective that an able bodied person couldn’t. That and it makes Shadow’s connection so much stronger. His mobility aids were designed by Maria. He didn’t just help her with her disability - she helped with his. He wouldn’t be able to function without what she and Gerald created for him.

Quote from the right: “Back on Earth [Maria’s?] parents have been blessed with another little girl. They’re already run tech(?) and she has none of the genetic markers like to [Maria’s] condition. While this was welcomed news, the unspoken commentary was received loud and clear.”

(I am assuming they’re talking about Maria’s sister, but I guess they could also be talking about her cousin.)

So did Maria’s parents see their new daughter as a replacement? If I’m reading that correctly, it’s so sad. Do you think Gerald told Maria about her sister/cousin? If she did know about it, I bet she was excited to meet her. But I get the feeling that her parents back home didn’t really care about her anymore given what Gerald says in his journal. It hurts that much more when you consider how much Maria wanted to go home, perhaps even return to her family.

I feel like all of this makes Maria’s death more tragic for both Gerald and Shadow. For Gerald, he did so much reason and sacrificed so much in order to try and find a cure for Maria. He supported her when no one else did. And from his perspective, despite her illness and the judgement of others, including potentially her own family, she was still positive. And yet she was killed, and he only found out about her death because of a report that had her name on it (I think anyways?).

From Shadow’s perspective, she is the person who gave his name meaning. Despite most being distant and weary of her, she was immediately friendly to him and helped teach him about the world. She helped created the devices used to reduce his pain and control his powers. He quite literally carries part of him with her. She was his sole reason for existing for a long time. And despite being this super supportive, kind, loving person, she was killed. I can imagine him being mad at Gerald for messing with his memories, but I figure there’s a degree of understanding, even if he doesn’t fully agree with what Gerald did. The difference between them both is Shadow’s purpose shifted beyond Maria while Gerald’s did not. Anyways, I digress - this post is about disability rep, not Shadow lore.

I love this and Dark Beginnings for their direct and indirect disability rep. My love for Shadow and Maria has only grown and I have a deeper appreciation for Gerald. I wish more people were as understanding as he is towards people with invisible disabilities.

I don’t really have a conclusion. I just really wanted to yap about the journal entries.